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Updated: Feb 10, 2026

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鉴定了额外的深层内在结合变体,促使对SPG7遗传的批判性评估

Emma H Gillesse1,2, Miranda Wan2,3, Setareh Ashtiani2

  • 1Alberta Children's Hospital Research Institute, Calgary, Canada.

Neurogenetics
|February 8, 2026
PubMed
概括

与SPG7相关的遗传性性 (SPG7-HSP) 可能是由深层内在变异引起的,通常被标准遗传检测遗漏. 基因组测序 (GS) 对于诊断只有一个已识别的编码变异的SPG7-HSP病例至关重要.

关键词:
自体主导的自体主导.自体逆行性自体逆行性基因组测序是指基因组的测序.遗传性性残残疾人遗传性残疾人遗传能力缺失 遗传能力缺失SPG7 SPG7 SPG7 SPG7 SPG7 SPG7 SPG7 SPG7 SPG7 SPG7 SPG7 SPG7 SPG7性截肢症 7 性截肢症

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